Naslov
Multiple intestinal atresia with combined immunodeficiendy due to TTC7A gene mutation - case report

Autori
Vukšić, Iva ; Dumić Kubat, Katja ; Ćaleta, Tomislav ; Matić, Toni ; Cigrovski, Nevenka ; Kelečić, Jadranka ; Pasini, Miram ; Luetić, Tomislav ; Vuković, Jurica ; Sindičić Dessardo, Nada ; Grizelj, Ruža

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
Archives of disease in childhood, 106 (2021), Suppl 2 / - , 2021, A51-A52

Skup
10th Congress of European Paediatric Association EPA/UNEPSA jointly held with 14 th Congress of Croatian Paediatric Society

Mjesto i datum
Zagreb, Hrvatska, 07.10.2021. - 09.10.2021

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
multiple intestinal atresia ; combined immunodeficiendy ; TTC7A mutation

Sažetak
Multiple intestinal atresia (MIA) is a congenital malformation disorder in which atresia occurs at multiple levels throughout the gastrointestinal tract, most commonly small bowel. Frequently it presents as an isolated anomaly, but also as a part of a complex inherited disorder caused by homozygous or compound heterozygous mutation in tetratricopeptide repeat domain 7A (TTC7A) gene. These patients usually have associated mild or severe combined immunodeficiency. Herein we report an infant with MIA and associated combined immunodeficiency (CID).

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA